A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12502146



Internal ID890454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110554764..110566686hg38UCSC Ensembl
Innerchr6:110554914..110566536hg38UCSC Ensembl
Outerchr6:110554614..110566836hg38UCSC Ensembl
chr6:110875967..110887889hg19UCSC Ensembl
Innerchr6:110876117..110887739hg19UCSC Ensembl
Outerchr6:110875817..110888039hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3811923
hg1911923
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610361
Supporting Variants
SamplesHG00479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12502146
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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